Neurology Pathology Flashcards
Familial form of Alzheimer’s a/w which genes/proteins
Early Onset: APP (Chr 21), presenelin-1 (chromosome 14), presenilin-2 (Chr 1). Late Onset: ApoE4 (chr 19).
What gene/protein is protective in alzheimers
ApoE2
STURGE WEBER - Gene? Findings?
SSTURGE - Sporadic, port-wine Stain, Tram track Ca2+ in opposing gyri, Unilateral, Retardation, Glaucoma, GNAQ gene (activating mutation), Epilepsy (due to leptomeningeal angioma). This is congenital, non-inherited. Development anomaly of neural crest derivatives (meso/ecto)
Tuberous Sclerosis - Inheritance? Findings?
HAMARTOMAS: Hamartomas in CNS/Skin, Angiofibromas, Mitral regurg, Ash leaf spots, Rhabdomyoma, Tuberous Sclerosis, autosomal dOminant, Mental retardation, renal angiomyolipoma, Seizures, Shagreen patches. Increased incidence of subependymal astrocytomas and ungual fibromas.
Von Hippel Landau - Inheritance/Gene/Findings?
Cavernous hemangiomas in skin, mucosa, organs; bilateral renal cell carcinomas; hemangioblastoma (high vascularity with hyperchromatic nuclei ) in retina, brain stem, cerebellum H ; and pheochromocytomas. Autosomal dominant; mutated VHL tumor suppressor gene on chromosome 3, which results in constitutive expression of HIF (transcription factor) and activation of angiogenic growth factors.
NF1 Inheritance/Gene/Findings?
Mutated NF1 tumor suppressor gene - neurofibromin, a negative Ras regulator on Ch17. Skin tumors are from neural crest cells. Cafe au lait spots, lisch nodules, optic gliomas, fieurofibromas, pheochromocytomas.
PML (progressive multifocal encephalopathy) is? Caused by?
A/w JC virus. Demyelination of CNS due to destruction of oligodendrocytes. Rapidly progressive, usually fatal. Seen in 2-4% of AIDS patients.
What is metachromatic leukodystrophy
A/R lysosomal storage disease. Most commonly due to deficiency of arylsulfatase A. Buildup of sulfatides - impaired production of myelin sheath. Central and periphearl demyelination with ataxia and dementia.
What is Krabbe disease?
A/R disease due to deficiency of galactocerebrosidase. Buildup of galactocerebroside and psychosine destroys myelin sheath. Findings: peripheral neuropathy, developmental delay, optic atrophy, globoid cells
What is adrenoleukodystrophy
X linked genetic disorder typically affects males. Disrupts metabolism of very long chain fatty acids => xs bild up in nervous system, adrenal gland, tests. Prgerssive disease that leads to long term coma and death
